Rheum E2 -Relapsing Polychondritis, MCTD, Panniculitis, Periodic Fevers

What is the pathogenesis of MCTD?

B-cell hyperactivity → overproduction of autoantibodies Anti-u1-RNP and anti-u1-70 kd antibodies

What demographic is more affected by MCTD?

all races, F>>M, peak ages 15-25 yo

What are the 4 most common clinical signs of Mixed connective tissue disease?

Raynaud's, Arthralgia/Arthritis, Esophageal hypomobility, Pulmonary HTN

What are the 2 major characteristics of Mixed Connective Tissue Disease?

+ Anti-u1-RNP or RNP antibodies & Raynaud's

What testing should you order in a pt w/ Mixed Connective Tissue Disease?

CXR & Echo for pulmonary HTN

What is the tx for Pulmonary HTN in a patient with MCTD?

Bosentan, Iloprost

*if myositis consider steroids also

What is Relapsing Polychondritis?

severe, episodic, and progressive inflammatory condition involving cartilaginous structures (predominantly ears, nose, and laryngotracheobronchial tree)

What are the cardinal signs of Relapsing Polychondritis?

Ear pain, erythema, and swelling

What demographic is most likely to be affected by Relapsing Polychondritis?

5th decade, mostly whites, M=F

What is KEY to the diagnosis of Relapsing Polychondritis?

auricular edema and erythema sparing the Lobule (no cartilage)

What effect does Relapsing Polychondritis have on the nose?

Saddle nose deformity

What effect does Relapsing Polychondritis have on the eyes?

Episcleritis

What is the pathogenesis of Relapsing Polychondritis?

AI dz d/t circulating antibodies to cartilage-specific collagen types, elevated CD4, NK T cells, IL-8 & proinflammatory cytokines, and HLD DR 4 association

What is the mainstay tx for Relapsing Polychondritis?

Systemic corticosteroids (Prednisone)

What other tx might be helpful for Relapsing Polychondritis?

MTX

What are the most frequent causes of death in Relapsing Polychondritis?

Infection, Respiratory compromise, Systemic vasculitis

What is another name for Weber-Christian Disease?

Idiopathic lobular panniculitis

What is panniculitis?

neutrophilic infiltration of the subcutaneous fat beneath the dermis and epidermis

Type of Panniculitis:

Most common type of panniculitis and refers to bumps and bruises on the shins. A person will also show signs of general inflammation, such as fever and fatigue

Erythema nodosum

Type of Panniculitis:

Bumps are found on the back of the calves. This type is often related to Tb.

Erythema induratum

Type of Panniculitis:

Bumps and inflamed blood vessels occur on the calves and shins

Nodular vasculitis

Type of Panniculitis:

Bumps and ulcers develop on the lower legs. Generally affected women with DM

Necrobiosis lipodica

Type of Panniculitis:

Caused by poor vein function in the legs and is linked with obesity. More common in females and older adults

Lipodermatosclerosis

Type of Panniculitis:

Relatively severe form that causes general inflammation and organ problems, No known cause

Weber-Christian disease

What is Weber-Christian disease?

cases of nodular panniculitis with systemic signs and symptoms that remain idiopathic

What demographic does Weber-Christian affect?

children & YA, any race, F>>>M

What is the pathogenesis of Weber-Christian disease?

lobular panniculitis d/t inflammation (PMNs predominantly) of subcutaneous fat lobules

What are other sx of Weber-Christian disease?

Erythema nodosum + malaise, fever, and arthralgias

What is Erythema nodosum?

crops of raised tender nodules over pretibial surfaces and ankles

What inc mortality rates in pts w/ Weber-Christian?

inflammation involving visceral organs

What will be present on a skin biopsy (including fat) of a patient with Weber-Christian disease?

Lobular panniculitis

What is the tx for Weber-Christian disease?

there is no uniformly effective therapy that exists

What drugs may help reduce sx of Weber-Christian disease?

NSAIDs, Fibrinolytic agents, DMARDS, Systemic steroids

What is Auto-inflammatory disease?

inappropriate activation of antigen-independent inflammatory mechanisms

Auto-inflammatory diseases represents primary diseases of _______ immunity

Innate

What will Auto-inflammatory diseases typically lack?

autoantibodies or MHC associations

What cells are activated in an auto-inflammatory disease?

neutrophils, macrophages, mast cells, NK cells, complement

What are sx of auto-inflammatory diseases?

Periodic fevers for weeks or months, rash, serositis, arthritis, meningitis, uveitis, ± spenomegaly or LAD

What are the 2 types of periodic fever syndromes?

Familial Mediterranean Fever & Neonatal Onset Multisystem Inflammatory Disease

When does Neonatal Onset Multisystem Inflammatory Disease occur?

w/in the first 6 weeks of life

What are sx of Familial Mediterranean Fever?

fever that comes and goes, stomach pain, arthritis, CP, skin rashes

What are sx of Neonatal Onset Multisystem Inflammatory Disease?

fever, rash, brain swelling, joint damage, vision/hearing loss, cognitive impairment

Who does Familial Mediterranean Fever typically affect?

children & YA of Mediterranean descent, + family history

What will labs in pts w/ Familial Mediterranean Fever show?

inc ESR/CRP, - ANA & RF, all other labs NORMAL

What is the 1st line Tx for Familial Mediterranean Fever?

Colchicine